Have questions? Visit https://www.reddit.com/r/SNPedia

rs864321713

From SNPedia

ClinVar
Risk rs864321713(;)
Alt rs864321713(;)
Reference rs864321713(AAAACACTG;AAAACACTG)
Significance Probable-Pathogenic
Disease CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement
Variation info
Gene TTN
CLNDBN CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement
Reversed 1
HGVS NC_000002.11:g.179518192_179518200delAGTGTTTTC
CLNSRC
CLNACC RCV000203600.1,